Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003335201 | SCV000935075 | pathogenic | Familial adenomatous polyposis 1 | 2018-12-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been observed in an individual affected with familial adenomatous polyposis (PMID: 11145293). This variant is also known as deletion A causes frameshift at codon 537 and termination at 548 in the literature. ClinVar contains an entry for this variant (Variation ID: 217932). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser537Valfs*12) in the APC gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003335201 | SCV004045500 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Mayo Clinic Laboratories, |
RCV000201973 | SCV000256926 | likely pathogenic | not provided | no assertion criteria provided | research |